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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Photogenic Epilepsy with Spastic Diplegia and Mental Retardation
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Accession:DOID:9007638 term browser browse the term
Synonyms:primary_id: MESH:C565587
 alt_id: OMIM:226800



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Neurodevelopmental Disorders 6845
        intellectual disability 4299
          Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4517
                  intellectual disability 4299
                    Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 0
paths to the root